Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001529807 | SCV001743911 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529807 | SCV001930736 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529807 | SCV001957034 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
OMIM | RCV003230283 | SCV003928016 | pathogenic | Nemaline myopathy 5 | 2023-05-31 | no assertion criteria provided | literature only |